Pyroglutamic aciduria (5-oxoprolinuria) without glutathione synthetase deficiency and with decreased pyroglutamate hydrolase activity.
D000328:Adult; D000581:Amidohydrolases / Q000172:deficiency*; D005260:Female; D006801:Humans; D010875:Pipecolic Acids / Q000652:urine; D011392:Proline / Q000097:blood; D011752:Pyroglutamate Hydrolase / Q000172:deficiency*; D011760:Pyrrolidinones / Q000652:urine*; D011761:Pyrrolidonecarboxylic Acid / Q000652:urine*
D010875:Pipecolic Acids; D011760:Pyrrolidinones; D011392:Proline; D000581:Amidohydrolases; D011752:Pyroglutamate Hydrolase; D011761:Pyrrolidonecarboxylic Acid